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Egenskap
Pigeon chest
Klinisk navn: Pectus carinatum
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Sammendrag
- Kroppssystem
- Abnormality of the musculoskeletal system
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/pectus-carinatum.json"
page <- fromJSON(url)
page$trait$namePigeon chestHP:0000768
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Pigeon chest, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test108 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Noonan SyndromeReads 18 of these genesPPP1CBBRAFCBLKRASLZTR1MRASAbout this report →
- Marfan Like SyndromesReads 10 of these genesFBN1SKITGFBR1TGFBR2FBN2SMAD2About this report →
- Loeys-Dietz SyndromeReads 6 of these genesTGFBR1TGFBR2SMAD2SMAD3TGFB2TGFB3About this report →
- Hypertrophic CardiomyopathyReads 18 of these genesPPP1CBBRAFKRASLZTR1MRASNRASAbout this report →
Show 104 more reports
- Osteogenesis ImperfectaReads 9 of these genesSP7BMP1MBTPS2XYLT2GORABPYCR1About this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 2 of these genesFLNBGZF1About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL2A1COL11A2About this report →
- Aortic AneurysmReads 5 of these genesFBN1TGFBR1TGFBR2MFAP5TGFB2About this report →
- Lysosomal Storage DiseaseReads 9 of these genesGALNSGNPTABNEU1AGAARSBGLB1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 2 of these genesGNPTABGNPTGAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 3 of these genesNEU1AGAMAN2B1About this report →
- Cutis LaxaReads 4 of these genesATP7AGORABPYCR1SLC2A10About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 3 of these genesCOL2A1FN1XYLT1About this report →
- Achondrogenesis panelReads 2 of these genesCOL2A1TRIP11About this report →
- Familial Paget Disease of BoneReads 2 of these genesTNFRSF11ATNFRSF11BAbout this report →
- NeurofibromatosisReads 2 of these genesLZTR1NF1About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Brain Abnormalities, Neurodegeneration and Dysosteosclerosis (BANDDOS)Reads 1 of these genesCSF1RAbout this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- Catel-Manzke SyndromeReads 1 of these genesTGDSAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)Reads 1 of these genesTGFBR1About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- Lamb-Shaffer SyndromeReads 1 of these genesSOX5About this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Mucopolysaccharidosis Type IVA (Morquio A Syndrome)Reads 1 of these genesGALNSAbout this report →
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)Reads 1 of these genesARSBAbout this report →
- Mucopolysaccharidosis Type VII (Sly Syndrome)Reads 1 of these genesGUSBAbout this report →
- Mucopolysaccharidosis-Plus SyndromeReads 1 of these genesVPS33AAbout this report →
- PPP1R21-Related Neurodevelopmental DisorderReads 1 of these genesPPP1R21About this report →
- Saul-Wilson SyndromeReads 1 of these genesCOG4About this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeReads 1 of these genesDDR2About this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- Spondyloepiphyseal Dysplasia, Kondo-Fu TypeReads 1 of these genesMBTPS1About this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- Turnpenny-Fry SyndromeReads 1 of these genesPCGF2About this report →
- UBTF-Related NeuroregressionReads 1 of these genesUBTFAbout this report →
- Ulnar-Mammary SyndromeReads 1 of these genesTBX3About this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 2 of these genesHBA1HBA2About this report →
- ThalassaemiaReads 2 of these genesHBA1HBA2About this report →
- Intellectual DisabilityReads 13 of these genesASH1LBRD4RPS6KA3NKAPATP2B1HNRNPH1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 4 of these genesASH1LTRAF7RNU4-2ZFXAbout this report →
- Cornelia de Lange SyndromeReads 2 of these genesBRD4RAD21About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 2 of these genesEVCEVC2About this report →
- PolycythemiaReads 2 of these genesHBA1HBA2About this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 1 of these genesTBX6About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Congenital Disorders of GlycosylationReads 7 of these genesKRT5SLC37A4B3GALT6B3GAT3GORABMAN1B1About this report →
- Syndromic CraniosynostosisReads 3 of these genesFGFR2MEGF8SKIAbout this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Tetralogy of FallotReads 1 of these genesNKX2-5About this report →
- Charcot-Marie-Tooth DiseaseReads 5 of these genesITPR3SPTAN1ATP7AMMETRPV4About this report →
- OsteopetrosisReads 2 of these genesPLEKHM1TNFRSF11AAbout this report →
- Inherited Neurodegenerative DisordersReads 10 of these genesSPTAN1ATP7ANALCNSIL1UCHL1CSF1RAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesCSF1RAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesARL3FAM149B1KIF7About this report →
- Epidermolysis BullosaReads 2 of these genesKRT5DSTAbout this report →
- Congenital MyopathiesReads 2 of these genesTNNT1TPM2About this report →
- Ehlers-Danlos SyndromeReads 2 of these genesB3GALT6B4GALT7About this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesACTBRAB3GAP2About this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesNKX2-5About this report →
- Rare Hereditary Peripheral NeuropathiesReads 6 of these genesITPR3SPTAN1ATP7AMMEDSTTRPV4About this report →
- VitreoretinopathyReads 2 of these genesCOL2A1XYLT2About this report →
- Spinal Muscular AtrophyReads 2 of these genesSPTAN1ATP7AAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Hyper-IgE SyndromeReads 1 of these genesIL6STAbout this report →
- Epilepsy (Full Panel)Reads 5 of these genesSPTAN1PIGSHNRNPH2UPF3BZEB2About this report →
- Inherited ThrombocytopeniasReads 2 of these genesACTBRAP1BAbout this report →
- Other Inborn Errors of ImmunityReads 5 of these genesHYOU1IL6STITPR3KRASRMRPAbout this report →
- Other Inherited LeukodystrophiesReads 3 of these genesCSF1RPYCR2ALDH3A2About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesMAXAbout this report →
- Severe Congenital NeutropeniaReads 1 of these genesG6PC3About this report →
- Type I InterferonopathiesReads 1 of these genesACP5About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesNKX2-5About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesSIL1SNX14About this report →
- Glycogen Storage DiseaseReads 1 of these genesSLC37A4About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesSPTAN1UCHL1About this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-5About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGSAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesCBSAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesPTF1AAbout this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDSTAbout this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesTOE1About this report →
- Hearing Loss and DeafnessReads 2 of these genesSLC12A2COL11A2About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPYCR2About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesCOL13A1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesRAB3GAP2About this report →
- Diabetes MellitusReads 1 of these genesPTF1AAbout this report →
- Thyroid CancerReads 1 of these genesNKX2-5About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesACP5About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesACTBAbout this report →
- Dilated CardiomyopathyReads 1 of these genesRAF1About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRAB3GAP2About this report →
- Retinitis PigmentosaReads 1 of these genesARL3About this report →
Les genene knyttet til Pigeon chest, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test182 gener knyttet til Pigeon chest
Endringer i disse genene forårsaker sjeldne tilstander der Pigeon chest forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ASH1LASH1 like histone lysine methyltransferase | Alltid | I 1 tilstand |
| BRD4bromodomain containing 4 | Alltid | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Alltid | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Alltid | I 6 tilstander |
| CUL7cullin 7 | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FRYLFRY like transcription coactivator | Alltid | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Alltid | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Alltid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| HYOU1hypoxia up-regulated 1 | Alltid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Alltid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KRT5keratin 5 | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Alltid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Alltid | I 2 tilstander |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Alltid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alltid | I 1 tilstand |
| RAB33BRAB33B, member RAS oncogene family | Alltid | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Alltid | I 1 tilstand |
| SLC13A1solute carrier family 13 member 1 | Alltid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 1 tilstand |
| SP7Sp7 transcription factor | Alltid | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alltid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 4 tilstander |
| CBLCbl proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| DYMdymeclin | Svært ofte (80–99 %) | I 2 tilstander |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 5 tilstander |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 3 tilstander |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 3 tilstander |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 3 tilstander |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
Vis 142 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Svært ofte (80–99 %) | I 3 tilstander |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ACTBactin beta | Ofte (30–79 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Ofte (30–79 %) | I 1 tilstand |
| ARSBarylsulfatase B | Ofte (30–79 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 2 tilstander |
| BMP1bone morphogenetic protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Ofte (30–79 %) | I 2 tilstander |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| FLNBfilamin B | Ofte (30–79 %) | I 3 tilstander |
| FN1fibronectin 1 | Ofte (30–79 %) | I 2 tilstander |
| GZF1GDNF inducible zinc finger protein 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstander |
| MAXMYC associated transcriptional regulator X | Ofte (30–79 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ofte (30–79 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Ofte (30–79 %) | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Ofte (30–79 %) | I 2 tilstander |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 2 tilstander |
| NALCNsodium leak channel, non-selective | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 2 tilstander |
| NKAPNFKB activating protein | Ofte (30–79 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ofte (30–79 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 2 tilstander |
| SOX5SRY-box transcription factor 5 | Ofte (30–79 %) | I 2 tilstander |
| SV2Asynaptic vesicle glycoprotein 2A | Ofte (30–79 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| TNFRSF11ATNF receptor superfamily member 11a | Ofte (30–79 %) | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Ofte (30–79 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Ofte (30–79 %) | I 3 tilstander |
| TRAF7TNF receptor associated factor 7 | Ofte (30–79 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Ofte (30–79 %) | I 2 tilstander |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ofte (30–79 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstander |
| VPS37AVPS37A subunit of ESCRT-I | Ofte (30–79 %) | I 2 tilstander |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| ZNF668zinc finger protein 668 | Ofte (30–79 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Noen ganger (5–29 %) | I 2 tilstander |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DSTdystonin | Noen ganger (5–29 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBN2fibrillin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Noen ganger (5–29 %) | I 1 tilstand |
| GPC3glypican 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Noen ganger (5–29 %) | I 1 tilstand |
| IHHIndian hedgehog signaling molecule | Noen ganger (5–29 %) | I 2 tilstander |
| IPO8importin 8 | Noen ganger (5–29 %) | I 2 tilstander |
| LGI3leucine rich repeat LGI family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 2 tilstander |
| MFAP5microfibril associated protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MYF5myogenic factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Noen ganger (5–29 %) | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Noen ganger (5–29 %) | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| RNF135ring finger protein 135 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Noen ganger (5–29 %) | I 3 tilstander |
| SNX14sorting nexin 14 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX3T-box transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TOE1target of EGR1, exonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Noen ganger (5–29 %) | I 3 tilstander |
| UBTFupstream binding transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Noen ganger (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 3 tilstander |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Sjelden (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| SMSspermine synthase | Sjelden (1–4%) | I 2 tilstander |
| TBCDtubulin folding cofactor D | Sjelden (1–4%) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ikke registrert | I 1 tilstand |
| BGNbiglycan | Ikke registrert | I 1 tilstand |
| CHRM3cholinergic receptor muscarinic 3 | Ikke registrert | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Ikke registrert | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Ikke registrert | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Ikke registrert | I 1 tilstand |
| FKBP10FKBP prolyl isomerase 10 | Ikke registrert | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ikke registrert | I 1 tilstand |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Ikke registrert | I 1 tilstand |
| GUSBglucuronidase beta | Ikke registrert | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| KIF7kinesin family member 7 | Ikke registrert | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registrert | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registrert | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Ikke registrert | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registrert | I 1 tilstand |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Ikke registrert | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Ikke registrert | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registrert | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Ikke registrert | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Ikke registrert | I 1 tilstand |
| WNT7AWnt family member 7A | Ikke registrert | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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